Linked Data
ClinVar Variation Id:
866672
dbSNP Id:
rs1433518605
gnomAD v3:
1-197427688-TTAA-T
gnomAD v4:
1-197427688-TTAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197427690_197427692del , CM000663.2:g.197427690_197427692del | GRCh38 |
| NC_000001.10:g.197396820_197396822del , CM000663.1:g.197396820_197396822del | GRCh37 |
| NC_000001.9:g.195663443_195663445del | NCBI36 |
| NG_008483.1:g.164413_164415del | |
| NG_008483.2:g.231229_231231del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2365_2367del MANE Select | ENSP00000356370.3:p.Asn789del | |
| ENST00000638467.1:c.2365_2367del | ENSP00000491102.1:p.Asn789del | |
| ENST00000681519.1:c.1246_1248del | ENSP00000505267.1:p.Asn416del | |
| ENST00000367397.1:c.508_510del | ENSP00000356367.1:p.Asn170del | |
| ENST00000367399.6:c.2029_2031del | ENSP00000356369.2:p.Asn677del | |
| ENST00000367400.7:c.2365_2367del | ENSP00000356370.3:p.Asn789del | |
| ENST00000480086.2:n.266_268del | ||
| ENST00000484075.5:c.2365_2367del | ENSP00000433932.1:p.Asn789del | |
| ENST00000535699.5:c.2158_2160del | ENSP00000438786.1:p.Asn720del | |
| ENST00000538660.5:c.2128+5734_2128+5736del | ENSP00000438091.1:n.2128+5734_2128+5736del | |
| NM_001193640.1:c.2029_2031del | NP_001180569.1:p.Asn677del | |
| NM_001257965.1:c.2158_2160del | NP_001244894.1:p.Asn720del | |
| NM_001257966.1:c.2128+5734_2128+5736del | NP_001244895.1:n.2128+5734_2128+5736del | |
| NM_201253.2:c.2365_2367del | NP_957705.1:p.Asn789del | |
| NR_047563.1:n.2366_2368del | ||
| NR_047564.1:n.2574_2576del | ||
| XM_011509365.1:c.2365_2367del | XP_011507667.1:p.Asn789del | |
| XM_011509366.1:c.2365_2367del | XP_011507668.1:p.Asn789del | |
| XM_011509367.1:c.2365_2367del | XP_011507669.1:p.Asn789del | |
| XM_011509368.1:c.1783_1785del | XP_011507670.1:p.Asn595del | |
| XM_011509369.1:c.808_810del | XP_011507671.1:p.Asn270del | |
| XM_011509365.2:c.2365_2367del | XP_011507667.1:p.Asn789del | |
| XM_011509369.2:c.808_810del | XP_011507671.1:p.Asn270del | |
| XM_017000851.1:c.1522_1524del | XP_016856340.1:p.Asn508del | |
| XM_017000852.1:c.2365_2367del | XP_016856341.1:p.Asn789del | |
| NM_201253.3:c.2365_2367del MANE Select | NP_957705.1:p.Asn789del | |
| NM_001193640.2:c.2029_2031del | NP_001180569.1:p.Asn677del | |
| NM_001257965.2:c.2158_2160del | NP_001244894.1:p.Asn720del | |
| NR_047563.2:n.2318_2320del | ||
| NR_047564.2:n.2526_2528del | ||
| NM_001257966.2:c.2128+5734_2128+5736del | NP_001244895.1:n.2128+5734_2128+5736del |